I440V mutation in C1 esterase inhibitor gene in a patient with hereditary angioedema and its influence to the structure of C1 esterase inhibitor
10.3760/cma.j.issn.0412-4030.2009.06.014
- VernacularTitle:遗传性血管性水肿C1INH基因1440V变异及其对结构的影响
- Author:
Yan WU
;
Liehua DENG
;
Gang ZHAO
;
Yunfeng HU
;
Dong YIN
;
Ze LIN
;
Yongkeng ZHAO
- Publication Type:Journal Article
- Keywords:
Angioneurotic edema;
C1 esterase inhibitors;
Variation(genetics)
- From:
Chinese Journal of Dermatology
2009;42(6):406-408
- CountryChina
- Language:Chinese
-
Abstract:
Objective To assess the mutation in exon 8 of C1 esterase inhibitor(C1INH)gene in a patient with hereditary angioedema(HAE).Methods Genomic DNA was extracted from a female patient with HAE as well as her mother and a normal human control.The fragment of exon 8 of C1INH gene was amplified by PCR and inserted into plasmid carrier pUC19 with the help of ligase.Then,the recombinant plasmid was transformed into competent cells of E coli TG1 strains.After culture of positive transformant,plasmid DNA Was extracted and subjected to sequencing.SDS-PAGE and We:stem blot were performed on the sera of the patient to detect the concentration and function of C1INH protein.Results An A1677G mutation at exon 8 of C1INH gene.which resulted in a substitution of isoleucine to valine at codon 440,Was found in the patient who SUfiered from HAE type I.Additionally.SDS-PAGE and Western blot revealed that the molecular weight of C1INH protein was 96 000.but not 105 000 observed in noHnal human control.Conclusion The newly identified mutation 1440V.which is located at P4 residue of reactive center loop in C1INH.may result in conformational alteration of C1INH.
